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chromosomal abnormalitites
generally involve abnormal structure or number of chromosomes TERM 2
structural abnormalities
DEFINITION 2 deletion, a chunk or large piece and therefore many genes of chromosome is lost completely during replicationtranslocation, where genes are shifted to and abnormal location on a chromosome TERM 3
chromosome number
abnormalities
DEFINITION 3 aneuploidy, results in chromosomes not in mult of 23 as expectedtrisomy, three chromosomes instead of a pair TERM 4
causes of abnormalities
DEFINITION 4 advanced maternal age, ionizing radiatino, chemical agents, anti cancer drugs that effect DNA synthesis and subsequent protein synthesis TERM 5
downs syndrome
DEFINITION 5 trisomy 21flat facial profile, upward slanting eyes, protruding otngue, retardation, high incidence of heart defects, nm mvt problems
single gene disorders/mendelian
autosomal chromosome defects, recessive gene defects, dominant gene defects TERM 7
autosomal chromosome defects
DEFINITION 7 a defect in a specific gene in a body tissue chromosome, i.e. not X or Y TERM 8
recessive gene defect
DEFINITION 8 from the parents, each must have the gene to pass it down, they may not show symptoms TERM 9
dominant gene defect
DEFINITION 9 an abnormality in which only one parent has to contribute the gene TERM 10
general defect
DEFINITION 10 biochemical enzymatic pathway abnormality
activation of oncogenes
mutation of normal growht gene into abnormal genes resulting in excessive growth promoting proteins TERM 17
abnormal tumor suppressor gene
DEFINITION 17 mutation of a gene that limits cell reproduction TERM 18
DNA repair gene
DEFINITION 18 mutation results in cells prone to replication errors due to unfixed DNA, mistakes do happen in replication and these monitor the mistakes TERM 19
multifactorial inferitance
DEFINITION 19 diseases with a high familiar incidence, involve more than one genedwarfism, hypertension, DB type II gout
